Canonical Allele Identifier: CA594710609

Gene: POLR3A

Linked Data

• dbSNP Id: rs1294227507
• gnomAD v2: 10-79764459-A-C
• gnomAD v4: 10-78004701-A-C
• MyVariant Identifiers: chr10:g.79764459A>C (hg19) ; chr10:g.78004701A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.78004701A>C , CM000672.2:g.78004701A>C	GRCh38
NC_000010.10:g.79764459A>C , CM000672.1:g.79764459A>C	GRCh37
NC_000010.9:g.79434465A>C	NCBI36
NG_029648.1:g.29840T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698727.1:n.1307+15T>G
ENST00000698728.1:n.1826+15T>G
ENST00000698729.1:n.3372+15T>G
ENST00000698730.1:n.3372+15T>G
ENST00000698731.1:c.2106+15T>G	ENSP00000513898.1:n.2106+15T>G
ENST00000698732.1:c.*1108+15T>G	ENSP00000513899.1:n.*1108+15T>G
ENST00000698733.1:c.*1434+15T>G	ENSP00000513900.1:n.*1434+15T>G
ENST00000698734.1:c.2247+15T>G	ENSP00000513901.1:n.2247+15T>G
ENST00000698735.1:n.2362+15T>G
ENST00000698736.1:n.2362+15T>G
ENST00000698737.1:n.2362+15T>G
ENST00000698738.1:n.2362+15T>G
ENST00000698739.1:n.2362+15T>G
ENST00000372371.8:c.2247+15T>G MANE Select	ENSP00000361446.3:n.2247+15T>G
ENST00000372371.7:c.2247+15T>G	ENSP00000361446.3:n.2247+15T>G
ENST00000472014.5:n.469+15T>G
ENST00000473588.2:c.910+15T>G
NM_007055.3:c.2247+15T>G	NP_008986.2:n.2247+15T>G
NM_007055.4:c.2247+15T>G MANE Select	NP_008986.2:n.2247+15T>G